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Hirschsprung disease

M Ortega Escudero, J M Gutiérrez Dueñas, C Hernández Díaz, C Ruiz Hierro, R Chamorro Juárez, E Ardela Díaz
OBJECIVES: The aim of this study is to assess the outcome of surgery (Lynn's myectomy) in patients with chronic persistent constipation and failure of medical treatment. MATERIAL AND METHODS: Descriptive study of patients with severe chronic constipation treated by posterior anorectal myectomy (Lynn's technique). We report data from the last 15 years, with a minimum postoperative follow-up of one year. Patients included in the study suffered from a long-term constipation refractory to medical management...
October 10, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
S Castañeda, I Molina, P Jaimes, J Beltrán, J Valero, F Fierro
INTRODUCTION: The aim of the present study was to evaluate clinical presentation and management of sigmoid volvulus in children. Sigmoid volvulus is one of the three leading causes of acute obstruction of the colon and is between 50 and 90% of all large bowel volvulus. In the pediatric population only 3 to 5% of bowel obstructions are caused by volvulus and there are less than 100 cases reported in the literature. The presence of a redundant sigmoid with a narrow mesentery (dolicosigmoide) is a prerequisite for the volvulus formation...
January 15, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
Ajm Dingemans, Hjj van der Steeg, R Rassouli-Kirchmeier, M W Linssen, Ialm van Rooij, I de Blaauw
INTRODUCTION: Although surgery is effective in most patients with Hirschsprung's disease (HD), some have persistent obstructive symptoms. Additional medical treatment is generally sufficient, but a small fraction of these patients needs secondary surgery. Series on redo surgery are scarce. Aim of this study is to evaluate complications and clinical outcome of patients in need of redo surgery for HD. MATERIALS AND METHODS: Sixteen patients underwent redo endorectal pull-through surgery in our center between 2007 and 2015...
September 23, 2016: Journal of Pediatric Surgery
Mehran Peyvasteh, Shahnam Askarpour, Nasrollah Ostadian, Mohammad-Reza Moghimi, Hazhir Javaherizadeh
Background: Hirschsprung's disease is the most common cause of pediatric intestinal obstruction. Contrast enema is used for evaluation of the patients with its diagnosis. Aim: To evaluate sensitivity, specificity, positive predictive value, and negative predictive value of radiologic findings for diagnosis of Hirschsprung in patients underwent barium enema. Methods: This cross sectional study was carried out in Imam Khomeini Hospital for one year starting from 2012, April...
July 2016: Arquivos Brasileiros de Cirurgia Digestiva: ABCD, Brazilian Archives of Digestive Surgery
Zareen Vadva, Samuel Nurko, Rebecca Hehn, Sara O Vargas
OBJECTIVES: 1. To determine rates of histologically positive, negative and inconclusive rectal suction biopsies in post-pull-through patients with Hirschsprung disease evaluated for potential residual aganglionosis at our institution. 2. To determine how patients were managed after a post-pull-through rectal suction biopsy. METHODS: Thirty-nine post-pull-through suction biopsies from our institution were reviewed. Samples, stained with H&E and often acetylcholinesterase and/or calretinin, were categorized as "histologically" positive, negative or inconclusive for aganglionosis...
October 13, 2016: Journal of Pediatric Gastroenterology and Nutrition
Thirumaraichelvan Perungo, Johnrose John Grifson, Anbazhagan Amudhan, Kannan Devy Gounder
A 23-year-old woman presented to the outpatients department with symptoms of acute onset perianal pain of 2 weeks' duration and constipation. She was a known case of Hirschsprung's disease and was operated on in infancy. Rectal examination ruled out acute fissure or perianal sepsis, and subsequent colonoscopy was normal. Because of persistent symptoms, she was evaluated further by imaging which revealed a presacral lesion closely abutting the nerve roots, suggesting the possibility of a nerve sheath tumour...
October 12, 2016: BMJ Case Reports
Hendt P Versteegh, Navroop S Johal, Ivo de Blaauw, Michael P Stanton
PURPOSE: There is a paucity of recent evidence regarding long-term urological and sexual outcomes following surgery for Hirschsprung disease (HD). We aimed to undertake a systematic review of all HD literature to define these outcomes. MATERIALS AND METHODS: A systematic literature search was conducted on studies from 1966 to 2014. Relevant articles were assessed for urological/sexual operative complications and functional sequelae. Studies were analysed in qualitative (Rangel score) and quantitative syntheses...
September 30, 2016: Journal of Pediatric Urology
Keisuke Sugimoto, Tomoki Miyazawa, Hitomi Nishi, Kohei Miyazaki, Takuji Enya, Mitsuru Okada, Tsukasa Takemura
BACKGROUND: Several shared common gene networks participate in development of interstinal ganglia and also nephron formation; the glial cell line-derived neurotrophic factor/Ret/glial cell line-derived neurotrophic factor receptor gene network is particularly important. CASE PRESENTATION: We encountered a patient with total colonic aganglionosis as well as right renal agenesis and oligomeganephronia. Gene analysis in this patient disclosed a heterozygous p.S811F mutation was in Ret gene exon 14, resulting in a substitution of phenylalanine for serine...
October 7, 2016: BMC Nephrology
Song Sun, Gong Chen, Shan Zheng, Kuiran Dong, Xianmin Xiao
AIM: To retrospectively examine 12 patients with Hirschsprung disease (HD) who underwent posterior sagittal anorectoplasty (PSARP) for various complications. METHODS: This study included patients with HD who underwent redo pull-through (PT) via PSARP at our institute between 2005 and 2014. The type of initial procedure, clinical presentations, indications, and functional results were analyzed. Postoperative excretory function was assessed using the Krickenbeck classification...
August 31, 2016: Journal of Pediatric Surgery
William Grey, Rosaline Hulse, Anna Yakovleva, Dilyana Genkova, Benjamin Whitelaw, Ellen Solomon, Salvador J Diaz-Cano, Louise Izatt
The REarranged during Transfection (RET) proto-oncogene is a receptor tyrosine kinase involved in growth and differentiation during embryogenesis and maintenance of the urogenital and nervous systems in mammals. Distinct mutations across hotspot RET exons can cause Multiple Endocrine Neoplasia Type 2A (MEN2A) characterised by development of medullary thyroid cancer (MTC), phaeochromocytoma (PCC) and primary hyperparathyroidism (PHPT), with a strong correlation between genotype and phenotype. Here, we report a 42-year-old man presented in the clinic with a unilateral PCC, with subsequent investigations revealing a nodular and cystic thyroid gland...
October 5, 2016: Endocrine Pathology
Clara Sze-Man Tang, Hongsheng Gui, Ashish Kapoor, Jeong-Hyun Kim, Berta Luzón-Toro, Anna Pelet, Grzegorz Burzynski, Francesca Lantieri, Man-Ting So, Courtney Berrios, Hyoung Doo Shin, Raquel M Fernández, Thuy-Linh Le, Joke B G M Verheij, Ivana Matera, Stacey S Cherny, Priyanka Nandakumar, Hyun Sub Cheong, Guillermo Antiñolo, Jeanne Amiel, Jeong-Meen Seo, Dae-Yeon Kim, Jung-Tak Oh, Stanislas Lyonnet, Salud Borrego, Isabella Ceccherini, Robert M W Hofstra, Aravinda Chakravarti, Hyun-Young Kim, Pak Chung Sham, Paul K H Tam, Maria-Mercè Garcia-Barceló
Hirschsprung disease (HSCR) is the most common cause of neonatal intestinal obstruction. It is characterized by the absence of ganglia in the nerve plexuses of the lower gastrointestinal tract. So far, three common disease-susceptibility variants at the RET, SEMA3 and NRG1 loci have been detected through genome-wide association studies (GWAS) in Europeans and Asians to understand its genetic etiologies. Here we present a trans-ethnic meta-analysis of 507 HSCR cases and 1191 controls, combining all published GWAS results on HSCR to fine-map these loci and narrow down the putatively causal variants to 99% credible sets...
October 3, 2016: Human Molecular Genetics
Shallini Mittal, Gunjan Jindal, Amit Mittal, Rikki Singal, Samita Singal
Annular pancreas is a developmental anomaly that can be associated with other conditions such as Down syndrome, duodenal atresia, and Hirschsprung disease. A band of pancreatic tissue, in continuity with the pancreatic head, completely or incompletely encircles the descending duodenum, sometimes assuming a "crocodile jaw" configuration. We present the case of an adult who presented with epigastric pain and vomiting and was found to have annular pancreas.
October 2016: Proceedings of the Baylor University Medical Center
Rajesh Pattebahadur, Shipra Singhi, Prafulla Kumar Maharana
A 7-year-old male child presented with a history of discolouration of right eye since birth. On examination visual acuity was 6/6 on Snellen's chart in both eyes; anterior segment was within normal limits except for the brilliant blue discolouration of the inferior quadrant and superior quadrant of right iris and left eye iris, respectively. Both eyes had a clear lens and fundus findings were within normal limits. A detailed history from parents revealed that the child had difficulty in hearing and slurring of speech...
September 30, 2016: BMJ Case Reports
Sumantra Chatterjee, Ashish Kapoor, Jennifer A Akiyama, Dallas R Auer, Dongwon Lee, Stacey Gabriel, Courtney Berrios, Len A Pennacchio, Aravinda Chakravarti
Common sequence variants in cis-regulatory elements (CREs) are suspected etiological causes of complex disorders. We previously identified an intronic enhancer variant in the RET gene disrupting SOX10 binding and increasing Hirschsprung disease (HSCR) risk 4-fold. We now show that two other functionally independent CRE variants, one binding Gata2 and the other binding Rarb, also reduce Ret expression and increase risk 2- and 1.7-fold. By studying human and mouse fetal gut tissues and cell lines, we demonstrate that reduced RET expression propagates throughout its gene regulatory network, exerting effects on both its positive and negative feedback components...
October 6, 2016: Cell
Jordan Huber, Douglas C Barnhart, Shawn Liechty, Sarah Zobell, Michael D Rollins
BACKGROUND: A bowel management program using large volume enemas may be required for children with anorectal malformations (ARM), Hirschsprung's disease (HD), severe medically refractive idiopathic constipation (IC), and other conditions. A pretreatment contrast enema is often obtained. We sought to determine if the contrast enema findings could predict a final enema regimen. METHODS: A retrospective review was performed at a tertiary care children's hospital from 2011 to 2014 to identify patients treated with enemas in our bowel management program...
August 23, 2016: Curēus
Senthil Packiasabapathy, Ravindran Chandiran, Ravinder K Batra, Sandeep Agarwala
Mowat-Wilson syndrome is a rare congenital syndrome involving multiple system abnormalities. The most consistently present components include facial deformity, mental retardation, and Hirschsprung disease. We report the anesthetic management of a case of Mowat-Wilson syndrome, with a difficult airway, who underwent Duhamel's procedure and colostomy closure.
November 2016: Journal of Clinical Anesthesia
Consolato Sergi, Oana Caluseriu, Hunter McColl, David D Eisenstat
On the occasion of the 100(th) anniversary of Dr. Harald Hirschsprung's death, there is a worldwide significant research effort towards identifying and understanding the role of genes and biochemical pathways involved in the pathogenesis as well as the use of new therapies for the disease harboring his name (Hirschsprung disease, HSCR). HSCR (aganglionic megacolon) is a frequent diagnostic and clinical challenge in perinatology and pediatric surgery, and a major cause of neonatal intestinal obstruction. HSCR is characterized by the absence of ganglia of the enteric nervous system, mostly in the distal gastrointestinal tract (GIT)...
September 28, 2016: Pediatric Research
Debra E Weese-Mayer, Casey M Rand, Amy Zhou, Michael S Carroll, Carl E Hunt
The "bedside-to-bench" CCHS research journey has led to increased phenotypic-genotypic knowledge regarding autonomic nervous system (ANS) regulation, and improved clinical outcomes. CCHS is a neurocristopathy characterized by hypoventilation and ANS dysregulation. Initially described in 1970, timely diagnosis and treatment remained problematic until the first large cohort report (1992), delineating clinical presentation and treatment options. A central role of ANS dysregulation (2001) emerged, precipitating evaluation of genes critical to ANS development, and subsequent 2003 identification of PHOX2B as the disease-defining gene for CCHS...
September 27, 2016: Pediatric Research
Natasha Kwendakwema, Ragheed Al-Dulaimi, Angela P Presson, Sarah Zobell, Austin M Stevens, Brian T Bucher, Douglas C Barnhart, Michael D Rollins
BACKGROUND/PURPOSE: The purpose of this study was to study the effect of trisomy 21 (T21) on enterocolitis rates and bowel function among children with Hirschsprung disease (HD). METHODS: A retrospective cohort study of patients with HD treated at our tertiary children's hospital (2000-2015) and a cohort of patients with HD treated in our pediatric colorectal center (CRC) (2011-2015) were performed. RESULTS: 26/207 (13%) patients with HD had T21...
September 15, 2016: Journal of Pediatric Surgery
Viet Quoc Tran, Kim Thien Lam, Dinh Quang Truong, Minh Hoang Dang, Thao Thi Phuong Doan, Valerie Segers, Marilyn West Butler, Annie Robert, Philippe Goyens, Henri Steyaert
BACKGROUND: The study investigates the diagnostic value of calretinin immunohistochemical staining (CIS) on rectal suction biopsies (RSB) in Hirschsprung's disease (HD). METHODS: A prospective study was conducted at Children's Hospital 2 in Ho Chi Minh City, Vietnam, from January through December 2015. Patients suspected of HD during this period underwent RSB and were followed in order to assess the accuracy of the diagnostic test with CIS compared with conventional histology (H&E)...
September 15, 2016: Journal of Pediatric Surgery
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